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Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P, Mariani V, Marconi C, Minardi R, Bramerio M, Licchetta L, Menghi V, Morandi L, Magini P, Mongelli P, Cardinale F, Seri M, Tinuper P, Tassi L, Pippucci T, Bisulli F. Dimartino P, et al. Among authors: marconi c. Mol Diagn Ther. 2020 Oct;24(5):571-577. doi: 10.1007/s40291-020-00488-1. Mol Diagn Ther. 2020. PMID: 32772316
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: marconi c. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.
160 results